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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Membrane Proteins01:30

Membrane Proteins

Plasma membranes have integral transmembrane proteins involved in facilitated transport. These proteins are collectively referred to as transport proteins, and they function as either channels for the material or as carriers themselves. Channel proteins have hydrophilic domains exposed to the intracellular and extracellular fluids and a hydrophilic channel through their core that provides a hydrated opening for solutes to pass through the membrane layers. Passage through the channel allows...
Secondary Active Transport01:32

Secondary Active Transport

One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme "pump" embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
Secondary Active Transport01:55

Secondary Active Transport

One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme “pump” embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...

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Related Experiment Video

Updated: Jul 18, 2026

Extracellular Glucose Depletion as an Indirect Measure of Glucose Uptake in Cells and Tissues Ex Vivo
10:35

Extracellular Glucose Depletion as an Indirect Measure of Glucose Uptake in Cells and Tissues Ex Vivo

Published on: April 6, 2022

[Glucose transport hereditary diseases].

Juan M Pascual1

  • 1Department of Neurology, Neurological Institute of New York, Children's Hospital of New York, College of Physicians and Surgeons, Columbia University, New York, New York, USA. dr.juan.pascual@gmail.com

Medicina Clinica
|December 16, 2006
PubMed
Summary

Heritable glucose transport disorders, like GLUT1 deficiency syndrome, result from mutations in glucose transporter genes. These genetic defects impair cellular glucose uptake, impacting various organs and leading to diverse clinical symptoms.

Area of Science:

  • Genetics and Molecular Biology
  • Cellular Physiology
  • Metabolic Disorders

Context:

  • Recent genetic and pathophysiological characterization of heritable glucose transport disorders.
  • Identification of mutations in specific glucose transporter genes (e.g., SLC2A1).
  • Understanding the role of glucose transporters in various tissues like the bowel, liver, and brain.

Purpose:

  • To elucidate the genetic basis and functional consequences of mutations in glucose transporters.
  • To highlight the link between genetic defects and clinical manifestations of glucose transport disorders.
  • To emphasize the broad impact of impaired glucose transport on cellular function and organismal health.

Summary:

  • Heritable disorders of glucose transport, including glucose-galactose malabsorption, Fanconi-Bickel syndrome, and GLUT1 deficiency syndrome, are caused by mutations in specific glucose transporter genes.

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Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy

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Measuring Uptake of the Glucose Analog, 6-(N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-yl)Amino)-6-Deoxyglucose, in Intact Murine Neural Retina
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Measuring Uptake of the Glucose Analog, 6-(N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-yl)Amino)-6-Deoxyglucose, in Intact Murine Neural Retina

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Related Experiment Videos

Last Updated: Jul 18, 2026

Extracellular Glucose Depletion as an Indirect Measure of Glucose Uptake in Cells and Tissues Ex Vivo
10:35

Extracellular Glucose Depletion as an Indirect Measure of Glucose Uptake in Cells and Tissues Ex Vivo

Published on: April 6, 2022

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy
07:07

Measuring Glucose Uptake in Drosophila Models of TDP-43 Proteinopathy

Published on: August 3, 2021

Measuring Uptake of the Glucose Analog, 6-(N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-yl)Amino)-6-Deoxyglucose, in Intact Murine Neural Retina
07:04

Measuring Uptake of the Glucose Analog, 6-(N-(7-Nitrobenz-2-Oxa-1,3-Diazol-4-yl)Amino)-6-Deoxyglucose, in Intact Murine Neural Retina

Published on: March 14, 2025

  • These mutations lead to a loss of function in glucose transporters at critical cellular membranes, impairing glucose uptake.
  • GLUT1 deficiency syndrome, a key example, involves SLC2A1 gene mutations causing neurological symptoms like epilepsy and hypoglycemia.

    • Impact:

    • These conditions demonstrate the fundamental importance of glucose transport for cellular energy metabolism.
    • The pleomorphic nature of these disorders necessitates an interdisciplinary clinical approach.
    • Advances in understanding these genetic defects open avenues for potential therapeutic strategies.